Complementation analysis of fatty acid oxidation disorders.

Fluorometric assay of proteins in the nanogram range

1973 • 1,640 citations

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

1976 • 229 citations

Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency: An Inherited Cause of Nonketotic Hypoglycemia

1985 • 203 citations

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency

1981 • 173 citations

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.

1985 • 152 citations

Genetic Deficiency of Medium-Chain Acyl Coenzyme A Dehydrogenase: Studies in Cultured Skin Fibroblasts and Peripheral Mononuclear Leukocytes

1985 • 116 citations

Recurrent Hypoglycemia Associated with Glutaric Aciduria Type II in an Adult

1979 • 116 citations

Dicarboxylic Aciduria: Deficient [1- ¹⁴ C]Octanoate Oxidation and Medium-Chain Acyl-CoA Dehydrogenase in Fibroblasts

1983 • 112 citations

Ethylmalonic-Adipic Aciduria

1979 • 110 citations

Oxidation of Fatty Acids in Cultured Fibroblasts: a Model System for the Detection and Study of Defects in Oxidation

1982 • 91 citations

Glutaric acidaemia type II (multiple Acyl‐Coa dehydrogenation deficiency)

1984 • 77 citations

Glutaric acidemia type II: Clinical, biochemical, and morphologic considerations

1982 • 63 citations

Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II

1980 • 63 citations

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.

1986 • 57 citations

Sex hormone-binding globulin—still many questions

1985 • 46 citations

Neonatal glutaric aciduria type II: An X-linked recessive inherited disorder

1981 • 38 citations

Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

1983 • 34 citations

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

1985 • 19 citations

The urinary excretion of ethylmalonic acid: What level requires further attention?

1983 • 17 citations

14C-labeled substrate catabolism by human diploid fibroblasts derived from infants and adults

1985 • 9 citations

Glutaric Acidaemia Type II (Multiple Acyl-CoA Dehydrogenation Deficiency)

1984 • 4 citations

1189 A NEW DEFECT OF β-OXIDATION: SHORT CHAIN ACYL-COA DEHYDROGENASE (SCADH) DEFICIENCY

1985 • 3 citations

830 MOLECULAR STUDY OF MUTANT MEDIUM CHAIN ACYL-CoA DEHYDROGENASE IN CULTURED FIBROBLASTS FROM PATIENTS WITH MEDIUM CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY

1985 • 1 citations

831 MOLECULAR HETEROGENEITY OF ELECTRON TRANSFER FLAVOPROTEIN (ETF) IN GLUTARIC ACIDURIA TYPE II DUE TO AN ETF DEFICIENCY

1985 • 1 citations